scholarly journals Arterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Stefano Cotti Piccinelli ◽  
Enrico Premi ◽  
Sonia Bonacina ◽  
Nicola Gilberti ◽  
Veronica Vergani ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Plasminogen Activator ◽  
Brain Magnetic Resonance Imaging ◽  
Intravenous Thrombolysis ◽  
Autosomal Recessive Disorder ◽  
Extensive Study ◽  
Transient Ischemic Attacks ◽  
Arterial Tortuosity ◽  
Cerebrovascular Events ◽  
Arterial Tortuosity Syndrome

Abstract Background Arterial Tortuosity Syndrome (ATS) is a rare autosomal recessive disorder characterized by elongated and tortuous arteries. Although ATS showed a significant clinical and pathophysiological overlap with other syndromes involving connective tissues, only few cases of cerebrovascular events related to this syndrome have been described so far. Case presentation We report the case of a 33-years-old male diagnosed with ATS since childhood, that experienced three sudden episodes of expressive aphasia and right hemiparesis with spontaneous resolution. He was treated with recombinant tissue plasminogen activator (r-TPA) at a dosage of 0.9 mg/kg with a complete recovery. Brain Magnetic Resonance Imaging (MRI) showed the absence of acute ischemic lesions and the patient was diagnosed with recurrent transient ischemic attacks (TIA). Intracranial and supra-aortic trunks Magnetic Resonance Angiography (MRA) and Angio-CT scan of the thoracic and abdominal aorta showed marked vessel tortuosity without stenosis. To our knowledge, this is the first reported case of an ATS patient with TIA in young age that was treated with intravenous thrombolysis with recombinant plasminogen activator. Conclusion Our report strengthens the relationship between ATS and juvenile cerebrovascular events, suggesting that an extensive study of body vessels in order to detect potential stenoses or occlusions in these cases is needed. The greater predisposition to cerebrovascular events in ATS could benefit from a more aggressive primary and secondary prevention therapy.

scholarly journals Clinical variability in two Macedonian families with Arterial tortuosity syndrome

2018 ◽  
Vol 21 (1) ◽  
pp. 47-52
Author(s):  
M Kocova ◽  
R Kacarska ◽  
K Kuzevska-Maneva ◽  
S Prijic ◽  
M Lazareska ◽  
...  
Keyword(s):  
Cerebral Arteries ◽  
Pulmonary Arteries ◽  
Physical Appearance ◽  
Autosomal Recessive Disorder ◽  
Joint Laxity ◽  
The Body ◽  
Gene Encoding ◽  
Arterial Tortuosity ◽  
Long Term Follow Up ◽  
Arterial Tortuosity Syndrome

Abstract Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder caused by mutations in the solute carrier family 2 member 10 (SLC2A10) gene encoding a glucose/ascorbic acid transporter. The clinical features of ATS are mild-to-severe tortuosity of the large and medium arteries throughout the body, accompanied by dysmorphisms and joint laxity. Vascular changes in different parts of the body lead to stenosis and/or aneurysms requiring difficult surgical procedures. Here we present two new patients with ATS from two unrelated families. Patient 1 presented at 10 years of age with headache and typical physical appearance, delicate skeleton, large visible pulsation of the carotid arteries in the neck, and joint laxity. On computed tomography (CT) angiography she had severe tortuosity of the aortal branches and cerebral arteries, but no significant tortuosity of the pulmonary arteries. Two cousins of the girl carried the same homozygous c.254T>C, p.(Leu85Pro) mutation in SLC2A10, however, they additionally had a severe involvement of the pulmonary vessels. Patient 2 was a 9-year-old girl diagnosed with severe tortuosity and stenosis of the pulmonary arteries and progressive myocardiopathy. Her physical appearance was very similar to Patient 1, except that she also had growth retardation. After long-term follow-up by cardiologists, she underwent cardiac surgery abroad, with an unfavorable outcome. Homozygosity for the c.685C>T, p.(Arg229*) mutation in the SLC2A10 gene was detected. Consanguinity was disclosed within both families. Our findings confirm the intrafamilial phenotype variability of ATS. A novel finding is the severe tortuosity of cerebral arteries causing migraine that has not been described before in a child with ATS.

Absence of Association Between TNF α Polymorphysm and Cerebral Large Vessel Abnormalities in Adults with Sickle Cell Anemia

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 4803-4803
Author(s):  
Perla Vicari ◽  
Gisele Sampaio Silva ◽  
Maria A E Noguti ◽  
Faustino Moreira Neto ◽  
Normelia Jesus Santos ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Large Vessel ◽  
Intracranial Stenosis ◽  
Cell Disease ◽  
Arterial Tortuosity ◽  
Tnf Α

Abstract Purpose: Stroke is a common and serious complication of sickle cell disease (SCD) affecting children as well as adults. Recent reports suggested that promoter region polymorphism in the tumour necrosis factor alpha (TNF-α) gene at position −308 is an important risk factor for large vessel stroke in children with SCD. The role of TNF-α polymorphism in the frequency of magnetic resonance angiography (MRA) abnormalities in adults with SCD is still uncertain. Our objective was to evaluate TNF-α polymorphism in adults with SCD from a tertiary University-based hospital in Sao Paulo, Brazil and correlate them to brain magnetic resonance imaging (MRI) and MRA findings. Casuistic and Methods: The determination of the G-308A polymorphism of the TNF-α gene was performed in forty-nine adult patients with SCD followed in our outpatient clinic. All subjects were evaluated with brain MRI and MRA to determine the presence of previous stroke, arterial tortuosity and intracranial stenosis Results: Thirty-three patients (67.3%) had abnormal brain MRA scans (intracranial stenosis or arterial tortuosity). Eight patients (16.3%) had intracranial stenosis on MRA and 29 (59.2%) showed arterial tortuosity. Forty one patients (83.7%) had the GG TNF-α (−308) genotype and eight had the GA genotype. There were no cases of AA genotype. There was no correlation between homozygosis for the TNF-α (−308) G allele and MRA abnormalities. Conclusion: Although TNF-α (−308) polymorphism has been considered a potential predictor of genetic risk for stroke in children with SCA, we found no association between the polymorphism and large vessel abnormalities in adults with sickle cell disease. (FAPESP: 04/04498-4)

scholarly journals Emergent stenting after intravenous thrombolysis for isolated basilar artery dissection in a patient with acute ischemic stroke: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Toshiaki Goda ◽  
Naoki Oyama ◽  
Takanori Iwamoto ◽  
Hiroki Takai ◽  
Shunji Matsubara ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Magnetic Resonance ◽  
Basilar Artery ◽  
Brain Magnetic Resonance Imaging ◽  
Intravenous Thrombolysis ◽  
Japanese Woman ◽  
Artery Dissection ◽  
Ischemic Lesion ◽  
Disturbance Of Consciousness ◽  
Old Japanese

Abstract Background Isolated basilar artery dissection (IBAD) is a rare but important cause of ischemic stroke. Anti-thrombotic therapy is often used to treat IBAD-related ischemic stroke, but selected cases might need more aggressive treatment. There is no previous report of emergent stenting for IBAD-related ischemic stroke after intravenous thrombolysis. Case presentation A 53-year-old Japanese woman was admitted to our hospital with disturbance of consciousness, right hemiplegia, severe dysarthria, and total gaze paralysis. Brain magnetic resonance imaging revealed no ischemic lesion, but magnetic resonance angiography showed stenosis in the basilar artery. After initiation of intravenous thrombolysis, her neurological symptoms dramatically improved. Five hours later, however, her symptoms deteriorated again. Cerebral angiography showed IBAD. Emergent stenting was successfully performed. At 90 days after stroke onset, she had no significant disability, with a modified Rankin scale score of 1. Conclusions Emergent stenting can be an effective treatment for patients with IBAD-related ischemic stroke who are resistant to IV-rtPA.

scholarly journals Compliant balloon angioplasty for the treatment of internal carotid artery dissection

2018 ◽  
Vol 25 (1) ◽  
pp. 47-50
Author(s):  
Nicolas Bricout ◽  
Nasreddine Nouri ◽  
Hilde Henon ◽  
Laurent Estrade ◽  
Fakhreddine Boustia ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Carotid Artery ◽  
Internal Carotid Artery ◽  
Balloon Angioplasty ◽  
Internal Carotid ◽  
Brain Magnetic Resonance Imaging ◽  
Intravenous Thrombolysis ◽  
Carotid Artery Dissection ◽  
Artery Dissection ◽  
Internal Carotid Artery Dissection

This report describes the innovative management of a severe haemodynamic stroke related to an occlusive extracranial internal carotid artery dissection. Intravenous thrombolysis combined with endovascular treatment were undertaken on the basis of a total mismatch profile (National Institutes of Health stroke scale (NIHSS) score of 27 and infarct volume on diffusion-weighted imaging of 0 mL). Balloon angioplasty using a long and compliant balloon microcatheter allowed complete recovery of the intracranial blood flow. The patient showed dramatic clinical improvement (day 1, NIHSS 5) and favourable functional outcome (day 90, modified Rankin scale score 2). Day 90 follow-up brain magnetic resonance imaging revealed no ischaemic change and magnetic resonance angiography assessed the patency of the internal carotid artery.

Association of admission leukocyte count with clinical outcomes in acute ischemic stroke patients undergoing intravenous thrombolysis with recombinant tissue plasminogen activator

2020 ◽  
Vol 17 ◽  
Author(s):  
Jie Chen ◽  
Fu-Liang Zhang ◽  
Shan Lv ◽  
Hang Jin ◽  
Yun Luo ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Acute Ischemic Stroke ◽  
Plasminogen Activator ◽  
Tissue Plasminogen Activator ◽  
Leukocyte Count ◽  
Intravenous Thrombolysis ◽  
Recombinant Tissue Plasminogen Activator ◽  
Functional Independence ◽  
Tissue Plasminogen ◽  
Poor Outcomes

Objective:: Increased leukocyte count are positively associated with poor outcomes and all-cause mortality in coronary heart disease, cancer, and ischemic stroke. The role of leukocyte count in acute ischemic stroke (AIS) remains important. We aimed to investigate the association between admission leukocyte count before thrombolysis with recombinant tissue plasminogen activator (rt-PA) and 3-month outcomes in AIS patients. Methods:: This retrospective study included consecutive AIS patients who received intravenous (IV) rt-PA within 4.5 h of symptom onset between January 2016 and December 2018. We assessed outcomes including short-term hemorrhagic transformation (HT), 3-month mortality, and functional independence (modified Rankin Scale [mRS] score of 0–2 or 0–1). Results:: Among 579 patients who received IV rt-PA, 77 (13.3%) exhibited HT at 24 h, 43 (7.4%) died within 3 months, and 211 (36.4%) exhibited functional independence (mRS score: 0–2). Multivariable logistic regression revealed admission leukocyte count as an independent predictor of good and excellent outcomes at 3 months. Each 1-point increase in admission leukocyte count increased the odds of poor outcomes at 3 months by 7.6% (mRS score: 3–6, odds ratio (OR): 1.076, 95% confidence interval (CI): 1.003–1.154, p=0.041) and 7.8% (mRS score: 2–6, OR: 1.078, 95% CI: 1.006–1.154, p=0.033). Multivariable regression analysis revealed no association between HT and 3-month mortality. Admission neutrophil and lymphocyte count were not associated with 3-month functional outcomes or 3-month mortality. Conclusion:: Lower admission leukocyte count independently predicts good and excellent outcomes at 3 months in AIS patients undergoing rt-PA treatment.

scholarly journals Diagnostic value of brain MR imaging and its correlation with clinical presentation and cognitive functions in idiopathic intracranial hypertension patients

2021 ◽  
Vol 57 (1) ◽  
Author(s):  
Ali Ahmed Abou Elmaaty ◽  
Carmen Ali Zarad ◽  
Tamer Ibrahim Belal ◽  
Tamer Sabry Elserafy
Keyword(s):  
Cognitive Impairment ◽  
Magnetic Resonance ◽  
Mr Imaging ◽  
Intracranial Hypertension ◽  
Idiopathic Intracranial Hypertension ◽  
Brain Magnetic Resonance Imaging ◽  
Education Level ◽  
Unknown Etiology ◽  
Control Subjects ◽  
Low Education

Abstract Background Idiopathic intracranial hypertension (IIH) is a neurological disorder of unknown etiology and ambiguous pathophysiology due to cerebrospinal fluid dysregulation. This study is designed to evaluate the role of brain magnetic resonance imaging (MRI) and magnetic resonance venography (MRV) in diagnosis of IIH, to clarify the nature and extent of cognitive deficits, and to detect if there is a correlation between radiology, clinical findings, and cognitive dysfunctions in those patients. Results The study included 34 patients and 34 age-, sex-, body mass index (BMI)-, and education-matched healthy control subjects. MR brain imaging and Montreal cognitive assessment (MoCA) test were used for both groups. MRI and MRV sensitivity for IIH diagnosis were 85.2% and 85.3% with 100% and 94.1% specificity respectively. 44.1% had cognitive impairment, memory was the most affected domain, followed by attention, abstraction, and orientation with statistically significantly lower total MoCA score (p < 0.005). Domain comparisons reveal a statistically significantly lower memory/delayed recall (p < 0.001) and abstract scores (p < 0.007) in IIH cases versus control subjects. In comparing patients with cognitive impairment (CI) versus those without CI, there were statistically significantly higher CI in low education level, presence of diplopia, hormonal contraceptive use, abnormal MRI brain, papilledema grades, BMI, and opening pressure. Conclusions Presence of more than or equal 3 MR imaging findings, bilateral transverse sinus stenosis, and less than or equal 4 combined conduit score increase the specificity and sensitivity of MRI and MRV for IIH diagnosis. IIH had detrimental effect on different cognitive domains especially when patient have low education level, diplopia, papilledema ≥ grade III, high OP ≥ 61.5 cm H2O, and BMI ≥ 34 Kg/m2 with abnormal MRI and MRV findings.

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